scholarly journals Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Anna Fetta ◽  
Veronica Di Pisa ◽  
Martina Ruscelli ◽  
Luca Soliani ◽  
Giacomo Sperti ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Control Group ◽  
Apnea Hypopnea Index ◽  
Arousal Index ◽  
Time In Bed ◽  
Sleep Breathing Disorders ◽  
Breathing Disorders ◽  
High Prevalence ◽  
Chromosome 12P ◽  
Impaired Sleep

Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers report the presence of impaired sleep in their children, there are no clear data in the literature on this issue and no systematic study has ever been performed. With this study, we aimed to characterize the features of sleep in Pallister-Killian syndrome and identify the possible influence of clinical and demographic features. Moreover, our aim was to verify the effectiveness of conventional screening questionnaires in this particular group of patients.Methods: We prospectively enrolled 14 patients aged 1–17 years in collaboration with PKS Kids Italia ONLUS. The Sleep Disturbance Scale for Children (SDSC) questionnaire was administered to caregivers. Then, video polysomnography (VPSG) of at least 24 h was performed and results were compared with a same-aged control group.Results: A total of 92% of patients had abnormal SDSC scores, extremely high in the “disorder of initiating and maintaining sleep” (DIMS) and “sleep breathing disorders” (SBD) subscales. VPSG showed a significantly impaired macrostructure in PKS patients, with a higher Arousal Index (p < 0.00001) and percentage of time spent in N3 (p < 0.00001), and reduced Sleep Efficiency (p = 0.0006). After dividing both PKS and controls into two groups based on median age, some peculiarities emerged: the younger group had higher Awakenings Index (p = 0.0207) and percentage of time spent in N1 (p = 0.015) while the older group showed higher time in bed (TIB) (p = 0.0485), compared with controls. Due to poor compliance, the Apnea-Hypopnea Index (AHI) was evaluated only for 10 PKS children, being significantly increased (p = 0.0427) compared with controls. SBD subscale scores in SDSC were significantly related to AHI values in VPSG (p = 0.0099).Conclusions: This study constitutes the first attempt to describe the sleep pattern in PKS. Despite small numbers due to the rarity of the syndrome, our VPSG results confirm the high prevalence of sleep disorders (SDs) in these patients. It is therefore essential to investigate and treat them. The SDSC scale is a good screening tool for early detection also in these patients, with particular sensitivity in detecting breathing disorders.

scholarly journals Prevalence and risk factors of sleep breathing disorders in patients with acromegaly from Moscow region

2018 ◽  
Vol 90 (10) ◽  
pp. 65-70
Author(s):  
Yu A Kovaleva ◽  
A V Dreval ◽  
N V Kulakov ◽  
S I Fedorova ◽  
I A Ilovayskaya
Keyword(s):  
Risk Factors ◽  
De Novo ◽  
Moscow Region ◽  
Saturation Level ◽  
Apnea Hypopnea Index ◽  
Newly Diagnosed ◽  
Arterial Blood ◽  
Sleep Breathing Disorders ◽  
Breathing Disorders ◽  
High Prevalence

Aim. Assessment of prevalence and risk factors of sleep breathing disorders in patients with acromegaly from Moscow region. Materials and methods. Cardiorespiratory monitoring was executed to 55 patients with acromegaly (18 men and 37 women): 27 patients with de novo disease, 28 patients on treatment of acromegaly (including 18 patietns with uncontrolled and 10 - with controlled acromegaly). All subgroups did not differ on sex, BMI and age. Also 24-hour monitoring of arterial blood pressure was carried out in 39 patients (12 men and 27 women, 14 patients with de novo acromegaly, 15 and 10 patients with uncontrolled and controlled acromegaly, respectively). Results and discussion. The high prevalence of sleep breathing disorders (SBD) was revealed in patients with acromegaly from Moscow Region. SBD was found in 92.6%, 83.5% and 70.0% patients with newly diagnosed, uncontrolled and controlled acromegaly, respectively. The majority of patients had severe/moderate SBD in all subgroups (78.8%, 72.2% and 60.0%, respectively). In patients with newly diagnosed and uncontrolled acromegaly index of apnea-hypopnea (31 and 38.5 respectively), number of apnoe episodes (76 and 72) and saturation level (93% and 93.5%) did not differ significantly while these parameters were better in patients with a controlled acromegaly (apnea-hypopnea index 20, apnea episodes 45.5 and saturation level 95%). The peak of desaturation was subphysiological in 91.7%, 86.7% and 77.8% of patients with newly diagnosed, uncontrolled and controlled acromegaly, respectively. Severity of SBD did not depend on GH and IGF-1 levels as well as acromegaly duration. Such all-population risk factors of SBD as BMI and age were valuable for patients with acromegaly, however gender did not matter. SBD were associated with lack of physiological decrease of systolic and diastolic night BP. Conclusion. Acromegaly per se is a strong risk factor of sleep breathing disorders. The high prevalence of sleep breathing disorders in patients with acromegaly even after achievement of control over a disease emphasized need of specialized treatment of these violations.

scholarly journals 0911 Association Between Chromosomal Abnormality And Sleep Disordered Breathing Characteristics In Children With Prader Willi Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A346-A346
Author(s):  
G Gupta ◽  
M Veeravigrom ◽  
B Felt ◽  
L O’Brien
Keyword(s):  
Sleep Disordered Breathing ◽  
Genetic Disorder ◽  
Uniparental Disomy ◽  
Retrospective Chart Review ◽  
Hormone Treatment ◽  
Apnea Hypopnea Index ◽  
Prader Willi Syndrome ◽  
Chromosomal Deletion ◽  
Arousal Index ◽  
Disordered Breathing

Abstract Introduction Prader-Willi Syndrome (PWS) is a genetic disorder caused by lack of expression of paternal genes from the chromosomal region 15 q11.2-q13. PWS is associated with excessive daytime sleepiness, sleep-disordered breathing (SDB), hypoventilation and circadian rhythm disturbance. Chromosomal deletion and uniparental disomy (UPD) are the two most common genetic etiologies of PWS. Differences in clinical features between these groups are recognized; however, limited literature exists regarding sleep characteristics. Methods The objective was to evaluate sleep characteristics of children with PWS between those with 15q11.2-q13 chromosomal deletion and those with other genetic etiologies. A retrospective chart review of in-laboratory polysomnograms (PSG) in children with PWS prior to growth hormone treatment was performed. The apnea hypopnea index (AHI), REM AHI, NREM AHI, Obstructive Apnea Index (OAI), Central Apnea Index (CAI), hypopnea index, arousal index, presence of hypoventilation, and positional AHI were assessed. Results Overall 33 PWS children were identified. Mean age was 5.9 ± 5.19 (range 1-16 years), 57% were male and 85% had SDB. Almost half (42%) had a 15q11.2-q13 chromosomal deletion. Of those without deletion, 30% had UPD. Sleep variables were similar in PWS with and without deletion: AHI (5.9±5.7 vs. 8.54±7.1; p=0.27), NREM AHI (3.3±4.6 vs. 6.2±6.3; p=0.16), CAI (1.1±1.5 vs. 1.9±3.8; p=0.43) SpO2 nadir 82.7±9.9% vs. 85.3±5.7%; p=0.36) and arousal index (10.3±7.8 vs. 15.4±7.8; p=0.09). Conclusion Sleep characteristics do not appear to clearly differ between genetic etiologies of PWS. Larger sample sizes are needed to support these findings. Support  

scholarly journals Subjective Assessment of Sleep in Infantile Autism, Comparative Study

2018 ◽  
Author(s):  
Maydelin Alfonso-Alfonso ◽  
Lilia Morales Chacon ◽  
Justa Elizabeth Gonzalez-Naranjo ◽  
Ana Margarita Valiente Linares
Keyword(s):  
Sleep Disturbances ◽  
Children With Autism ◽  
Subjective Assessment ◽  
Cross Sectional Study ◽  
Control Group ◽  
Sectional Study ◽  
Sleep Habits ◽  
Cross Sectional ◽  
Sleep Breathing Disorders ◽  
Breathing Disorders

Sleep disturbances very common in children with autism. That is why it requires instruments that facilitate its evaluation. Goals: Perform the evaluation of sleep from a subjective prospect in a group of children with primary autism and compare to a control group, using the Sleep Habits in Children Survey (CSHQ), In order to determine sleep disturbances, according to the sub-scales results. Method: A prospective cross-sectional study of the sample was carried out. A group with primary Autism n = 21 was selected. For the assessment of the dream we chose (CSHQ). The differences between independent groups were calculated by applying a Mann Whitney U test (p <0.05). Results: The group of children with autism showed the highest values of the total scale (mean = 48.00) wish is congruent with a greate disfuntion of sleep, compared to the control group (mean = 36.47) for p = 0.00. Significant differences were found for all sub scales p = 0.00, with the exception of sub-scale number 7. Conclusions: There is a high presence of sleep disturbances in children with primary autism, which are related to multifactorial causes, with the exception of sleep breathing disorders that did not show statistically significant differences between groups.

scholarly journals The prevalence of sleep breathing disorders in patients with atrial fibrillation undergoing catheter treatment

2019 ◽  
Vol 15 (1) ◽  
pp. 36-42
Author(s):  
M. V. Agaltsov ◽  
O. M. Drapkina ◽  
K. V. Davtyan ◽  
G. G. Arutyunyan
Keyword(s):  
Atrial Fibrillation ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Apnea Hypopnea Index ◽  
Moderate Degree ◽  
Sleep Monitoring ◽  
Mild Degree ◽  
Sleep Breathing Disorders ◽  
Breathing Disorders ◽  
Obstructive Sleep

Aim. To study the prevalence of obstructive sleep apnea (OSA) among patients with atrial fibrillation (AF) who have undergone catheter treatment for this arrhythmia, as well as to study the possible interrelationships of these sleep breathing disorders with comorbid diseases and the received therapy in this cohort.Material and methods. 231 patients from a random sample were examined (men – 118 [51.1%], mean age 57.8±9.3 years) in the range of 1-6 months after catheter therapy for AF. All patients underwent cardiorespiratory sleep monitoring for one night. The criterion for OSA severity was apnea/hypopnea index (AHI) for hour (the norm is less than 5 events/h). Depending on the results obtained, all patients were divided into groups without apnea and with apnea of varying severity – a mild degree with an AHI value of 5 to 15 events/h, moderate severity with an AHI value of 16 to 30 events/h, and severe degree when the value of AHI more than 30 events/h. The study was performed without abolishing the basic therapy.Results. According to the results of cardiorespiratory sleep monitoring 127 patients (56.7%) with OSA criteria, were registered. Among them, a mild degree of OSA was found in 35.4% (n=45), a moderate degree – in 40.9% (n=52), and severe one – in 23.7% (n=30) of all patients with apnea. Among patients with obstructive sleep apnea 51.1% were males. Arterial hypertension was significantly more frequent in patients with OSA of pronounced degrees of severity compared with patients without apnea (p=0.047). Weight and body mass index of patients with OSA were significantly higher than in patients without apnea (p=0.001 and p=0.001, respectively). The left atrium (LA) size in patients with severe OSA was significantly larger than in patients without apnea (p=0.0005), which may indicate a possible contribution of severe obstructive apnea to the arrhythmia generating. OSA was the strongest independent factor among others related to the LA size (odds ratio was 1.6; 95% confidence interval 1.2-2.1; p<0.0003).Conclusion. Obstructive sleep apnea is very widespread among a cohort of patients with AF who have undergone a catheter procedure to isolate the pulmonary veins. Sleep breathing disorder is the strongest and most independent risk factor for AF associated with increased LA, among other risk factors such as age, hypertension, and obesity. 

ANTICYTOKINE ACTIVITY OF THE PROTOZOA BLASTOCYSTIS SPP

2020 ◽  
pp. 44-48
Author(s):  
Bugero N.V. ◽  
Ilyina N.A. ◽  
Aleksandrova S.M.
Keyword(s):  
Gastrointestinal Tract ◽  
Gastrointestinal Diseases ◽  
Control Group ◽  
Ulcer Disease ◽  
Cytokine Balance ◽  
High Prevalence ◽  
Blastocystis Spp ◽  
High Level ◽  
Eukaryotic Organisms ◽  
High Degree

In addition to the classical pathogens, which are well understood and well identified, new pathogens with the potential to spread epidemiologically are being identified. Some of these little-known organisms are the simplest Blastocystis spp. blastocystostosis. The clinical significance of Blastocystis spp. and its pathogenicity are still under discussion. This parasite belongs to a group of single-celled eukaryotic organisms living in the colon of the human intestine. Blastocystis spp. is known to be found both in people with reduced immune status and in individuals without any clinical manifestation. It has been established that a sufficiently high degree of invasiveness is observed in persons with gastrointestinal tract diseases, dermatosis, allergic reactions, in patients with carriers of the human immunodeficiency virus, etc. Possessing persistence factors, protozoa blastocysts contribute to the inactivation of host defensive mechanisms, providing a stable anthogonistic effect. In recent years, many works have been devoted to the characteristics of the persistent properties of Blastocystis spr., however, individual properties of blastocysts, in particular, anticytokine activity (ACA), have not yet been studied. In this regard, the work studied the anticytokine activity of microorganisms isolated from healthy subjects and patients with gastrointestinal tract diseases. A high prevalence of the studied characteristic in the subjects was shown. The expression of anticytokine activity in the obtained isolates of blastocysts was the highest in the group of persons with gastric ulcer disease, which decreased in the order of duodenal ulcer, chronic cholecystitis, chronic gastritis, etc. The data obtained in this work on the high level of ACA expression in blastocyst isolates obtained from individuals with gastrointestinal diseases as compared with the control group enables to conclude that their exometabolites may influence the local cytokine balance [1], which supports the inflammatory process.

Prevalence of Toxoplasma gondii and Toxocara canis among Myositis Patients in Southwest of Iran

2019 ◽  
Vol 20 ◽  
Author(s):  
Jasem Saki ◽  
Karim Mowla ◽  
Reza Arjmand ◽  
Forough Kazemi ◽  
Somayeh Fallahizadeh
Keyword(s):  
Toxoplasma Gondii ◽  
Nested Pcr ◽  
Healthy Subjects ◽  
Toxocara Canis ◽  
Control Group ◽  
Igg Antibodies ◽  
Healthy Individuals ◽  
High Prevalence ◽  
Acute Toxoplasmosis ◽  
Southwest Of Iran

Introduction: Parasitic myositis is caused by some parasites such as T. gondii and T. canis. So, the aim of the study was to evaluate the prevalence T. gondii and T. canis in patients with myositis and healthy individuals. Methods: A total of 108 samples were randomly selected as the control (54 healthy individuals) and test (54 myositis patients) groups. IgG and IgM antibodies against T. gondii and IgG antibodies against T. canis were measured by the ELISA. The detection of chronic and acute toxoplasmosis was performed by the ELISA IgG avidity. The presence of T. gondii in blood was evaluated by the nested-PCR. Results: Of 108, 33 (30.6%) cases were detected positive for IgG against T. gondii that 19 (35.2%) and 14 (25.9%) were observed in myositis patients and healthy individuals, respectively (P=0.296). Of 19 positive cases, 12 (63.2%) and 7 (36.8%) cases were detected as chronic and acute toxoplasmosis, respectively, while, all positive cases in the control group had chronic toxoplasmosis (P=0.013). One (1.9%) sample was detected positive for anti- Toxoplasma gondii IgM and two (3.7%) samples were found positive for IgG against T. canis by the ELISA that these positive cases were observed only in myositis patients (P=1.000 P=0.495, respectively). B1 T. gondii gene was amplified in 12 (63.2%) and 1 (7.1%) in myositis patients and healthy subjects (P=0.001). Conclusions: Our findings showed that there was a relatively high prevalence of acute toxoplasmosis in myositis patients in comparison with the control subjects in southwest of Iran.

scholarly journals Comparison of Frequency and Severity of Sleep-Related Breathing Disorders in Children with Simple Obesity and Paediatric Patients with Prader–Willi Syndrome

2021 ◽  
Vol 11 (2) ◽  
pp. 141
Author(s):  
Agnieszka Lecka-Ambroziak ◽  
Marta Wysocka-Mincewicz ◽  
Anna Świercz ◽  
Małgorzata Jędrzejczak ◽  
Mieczysław Szalecki
Keyword(s):  
Insulin Resistance ◽  
Apnea Hypopnea Index ◽  
Oral Glucose ◽  
Prader Willi Syndrome ◽  
Model Assessment ◽  
Sleep Related Breathing Disorders ◽  
Breathing Disorders ◽  
Simple Obesity ◽  
Rhgh Treatment ◽  
Group 1

Sleep-related breathing disorders (SRBDs) can be present in children with simple obesity and with Prader–Willi syndrome (PWS) and influence an individual diagnostic and treatment approach. We compared frequency and severity of SRBDs in children with simple obesity and with PWS, both without and on recombinant human growth hormone (rhGH) treatment, and correlation of SRBDs with insulin resistance tests. A screening polysomnography-polygraphy (PSG), the oral glucose tolerance test (OGTT) and homeostasis model assessment of insulin resistance (HOMA-IR) were analysed in three groups of patients—with simple obesity (group 1, n = 30, mean age 14.2 years), patients with PWS without the rhGH therapy (group 2, n = 8, mean age 13.0 years) and during the rhGH treatment (group 3, n = 17, mean age 8.9 years). The oxygen desaturation index (ODI) was significantly higher in groups 2 and 3, compared to group 1 (p = 0.00), and hypopnea index (HI) was higher in group 1 (p = 0.03). Apnea–hypopnea index (AHI) and apnea index (AI) results positively correlated with the insulin resistance parameters in groups 1 and 3. The PSG values worsened along with the increasing insulin resistance in children with simple obesity and patients with PWS treated with rhGH that may lead to a change in the patients’ care.

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